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Definition (MSH)
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An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)
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Definition (NCI)
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An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand. (MeSH)
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Definition (CSP)
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autosomal dominant disorder that is the most frequent form of short-limb dwarfism; a disturbance of epiphyseal chondroblastic growth, causing inadequate enchondral bone formation.
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| Concepts |
Congenital Abnormality
(T019)
, Disease or Syndrome
(T047)
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| MSH |
D000130
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| ICD10 |
Q77.4
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| SnomedCT |
268273004, 248299001, 205467007, 190584003, 268350005, 86268005 |
| English |
Achondroplasias, Achondroplastic physique, Achondroplasia, ACHONDROPLASIA, ACH, achondroplasia, achondroplasia (diagnosis), Achondroplasia [Disease/Finding], Achondroplastic Dwarf, chondrodystrophia, achondroplastic dwarfism, Achondroplastic physique (finding), Physiologic dwarfism, Chondrodystrophia fetalis, Congenital osteosclerosis, Achondroplastic dwarf, Achondroplastic dwarfism, Achondroplasia (disorder), Osteosclerosis congenita, chondrodysplasia; fetalis, dwarfism; achondroplastic, fetal; chondrodysplasia, achondroplastic; dwarfism, Chondrodystrophia foetalis, osteosclerosis congenita, Chondrodystrophia, achondroplastic dwarf |
| Dutch |
achondroplastische dwerg, achondroplasie, achondroplastisch; dwerggroei, chondrodysplasie; foetalis, dwerggroei; achondroplastisch, foetaal; chondrodysplasie, Achondroplasia, Achondroplasie, Chondroplasie, a- |
| French |
Nain achondroplastique, Maladie de Parrot, Chondrodystrophie foetale, Nanisme achondroplasique, Achondroplasie |
| German |
achondroplastischer Zwerg, Achondroplasie |
| Italian |
Nanismo acondroplasico, Acondroplasia |
| Portuguese |
Nanismo acondroplásico, Acondroplasia |
| Spanish |
Enanismo acondroplásico, constitución física acondroplásica (hallazgo), complexión física de tipo acondroplásico, constitución física acondroplásica, enanismo constitucional, físico acondroplásico, acondroplasia (trastorno), acondroplasia, condrodistrofia fetal, enano acondroplásico, enanismo psicológico, Acondroplasia |
| Japanese |
軟骨無形成症, ﾅﾝｺﾂﾑｹｲｾｲｼｮｳ, ﾅﾝｺﾂｹｲｾｲﾌｾﾞﾝｾｲﾃｲｼﾝﾁｮｳｼｮｳ, 軟骨形成不全性低身長症 |
| Swedish |
Akondroplasi
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| Czech |
achondroplazie, Achondroplazie, Achondroplastický trpaslík |
| Finnish |
Akondroplasia
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| Russian |
APLAZIIA DIAFIZARNAIA, KHONDRODISTROFIIA GIPOPLASTICHESKAIA, AKHONDROPLAZIIA, KHONDRODISTROFIIA, KHONDRODISTROFIIA VROZHDENNAIA, PARRO-MARI BOLEZN', АПЛАЗИЯ ДИАФИЗАРНАЯ, АХОНДРОПЛАЗИЯ, ПАРРО-МАРИ БОЛЕЗНЬ, ХОНДРОДИСТРОФИЯ, ХОНДРОДИСТРОФИЯ ВРОЖДЕННАЯ, ХОНДРОДИСТРОФИЯ ГИПОПЛАСТИЧЕСКАЯ |
| Korean |
연골무형성증
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| Croatian |
AHONDROPLAZIJA
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| Polish |
Achondroplazja
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| Hungarian |
Achondroplasiás törpe, Achondroplasia |
| Norwegian |
Akondroplasi
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